ClinVar Miner

Submissions for variant NM_031935.3(HMCN1):c.13327A>T (p.Thr4443Ser)

gnomAD frequency: 0.00059  dbSNP: rs138178673
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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 RCV001895600 SCV002154578 likely benign not provided 2024-11-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV004041309 SCV003689654 uncertain significance not specified 2022-02-17 criteria provided, single submitter clinical testing The c.13327A>T (p.T4443S) alteration is located in exon 87 (coding exon 87) of the HMCN1 gene. This alteration results from a A to T substitution at nucleotide position 13327, causing the threonine (T) at amino acid position 4443 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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