ClinVar Miner

Submissions for variant NM_000266.4(NDP):c.101C>T (p.Ser34Leu)

gnomAD frequency: 0.00003  dbSNP: rs144031424
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002315301 SCV000849048 uncertain significance Inborn genetic diseases 2017-02-15 criteria provided, single submitter clinical testing The p.S34L variant (also known as c.101C>T), located in coding exon 1 of the NDP gene, results from a C to T substitution at nucleotide position 101. The serine at codon 34 is replaced by leucine, an amino acid with dissimilar properties. This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
GeneDx RCV000828445 SCV000970134 likely benign not provided 2018-05-30 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000828445 SCV001025793 benign not provided 2022-08-31 criteria provided, single submitter clinical testing

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