ClinVar Miner

Submissions for variant NM_000751.3(CHRND):c.1330T>C (p.Phe444Leu)

gnomAD frequency: 0.00001  dbSNP: rs772140028
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000820631 SCV000961350 uncertain significance Lethal multiple pterygium syndrome 2018-11-26 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine with leucine at codon 444 of the CHRND protein (p.Phe444Leu). The phenylalanine residue is moderately conserved and there is a small physicochemical difference between phenylalanine and leucine. This variant is present in population databases (rs772140028, ExAC 0.004%). This variant has not been reported in the literature in individuals with CHRND-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV003279111 SCV003987213 uncertain significance Inborn genetic diseases 2023-06-07 criteria provided, single submitter clinical testing The c.1330T>C (p.F444L) alteration is located in exon 11 (coding exon 11) of the CHRND gene. This alteration results from a T to C substitution at nucleotide position 1330, causing the phenylalanine (F) at amino acid position 444 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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