ClinVar Miner

Submissions for variant NM_024996.7(GFM1):c.703T>A (p.Tyr235Asn)

gnomAD frequency: 0.00003  dbSNP: rs760959060
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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 RCV002598896 SCV003489527 uncertain significance not provided 2022-05-31 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 235 of the GFM1 protein (p.Tyr235Asn). This variant is present in population databases (rs760959060, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with GFM1-related conditions. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt GFM1 protein function. 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 RCV004985208 SCV005593496 uncertain significance Inborn genetic diseases 2024-08-28 criteria provided, single submitter clinical testing The c.703T>A (p.Y235N) alteration is located in exon 6 (coding exon 6) of the GFM1 gene. This alteration results from a T to A substitution at nucleotide position 703, causing the tyrosine (Y) at amino acid position 235 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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